Allele Registry

Canonical Allele Identifier: CA12186516

Gene: POLR1HASP HGNC NCBI

Linked Data - Variant Effect Evidence

MyVariant.info:

GRCh38 chr6:g.29989292A>G

GRCh37 chr6:g.29957069A>G

Linked Data - Sequence & Population

gnomAD v2:

6:29957069 A / G

gnomAD v3:

6:29989292 A / G

gnomAD v4:

chr6-29989292-A-G

Joint Max Group AF 0.3236197 (EAS)

Genomes Max Group AF 0.3236197 (EAS)

Linked Data - NCBI & NCI

dbSNP:

4959039

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.29989292A>G , CM000668.2:g.29989292A>G	GRCh38
NC_000006.11:g.29957069A>G , CM000668.1:g.29957069A>G	GRCh37
NC_000006.10:g.30065048A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000688495.1:n.361-11897T>C

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